Single Nucleotide Polymorphisms in the Acylphosphatase 2 Gene and The SNP-SNP Interactions on the Risk of Breast Cancer in Chinese Han Women

Introduction: The purpose of this study was to investigate the impact of single nucleotide polymorphisms (SNPs) in the acylphosphatase 2 gene and the SNP-SNP interactions on breast Cancer (BC) risk in Chinese Han women.

Patients and methods: A logistic regression model was used to examine the association between SNPs and BC risk. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. Generalized multifactor dimensionality reduction was employed to analyze the SNP-SNP interaction.

Results: Logistic regression analysis showed that BC risk was significantly higher in carriers with the rs1682111-A allele than those with the TT genotype (TA + AA vs. TT; adjusted OR, 1.47; 95% CI, 1.21-1.92). In addition, we also found that BC risk was significantly higher in carriers with the rs10439478-C allele than those with the AA genotype (AC + CC vs. AA); adjusted OR, 1.67; 95% CI, 1.29-2.11. We found a significant 2-locus model (P = .0010) involving rs1682111 and rs10439478; the cross-validation consistency of this model was 10 of 10, and the testing accuracy was 60.11%. Participants with the TA or AA of rs1682111 and the AC or CC of rs10439478 genotype have the highest BC risk, compared with subjects with the TT of rs1682111 and the AA of rs10439478 genotype (OR, 2.52; 95% CI, 1.67-3.44), after covariate adjustment for gender, age, age at menarche, number of children, and body mass index.

Conclusions: Minor allele of rs1682111 and rs10439478 and its interaction were associated with increased BC risk.